Canonical Allele Identifier: CA1637655

Gene: ABCG8

Linked Data

• dbSNP Id: rs764634128
• ExAC: 2:44104702 C / G
• gnomAD v2: 2-44104702-C-G
• gnomAD v4: 2-43877563-C-G
• MyVariant Identifiers: chr2:g.44104702C>G (hg19) ; chr2:g.43877563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877563C>G , CM000664.2:g.43877563C>G	GRCh38
NC_000002.11:g.44104702C>G , CM000664.1:g.44104702C>G	GRCh37
NC_000002.10:g.43958206C>G	NCBI36
NG_008884.1:g.43600C>G
NG_008884.2:g.50622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1759C>G MANE Select	ENSP00000272286.2:p.Pro587Ala
ENST00000272286.2:c.1759C>G	ENSP00000272286.2:p.Pro587Ala
NM_022437.2:c.1759C>G	NP_071882.1:p.Pro587Ala
XM_005264483.2:c.1756C>G	XP_005264540.1:p.Pro586Ala
XM_011533029.1:c.1771C>G	XP_011531331.1:p.Pro591Ala
XM_011533030.1:c.1768C>G	XP_011531332.1:p.Pro590Ala
XM_011533031.1:c.1543C>G	XP_011531333.1:p.Pro515Ala
XR_939707.1:n.2261C>G
NM_001357321.1:c.1756C>G	NP_001344250.1:p.Pro586Ala
XM_011533029.2:c.1771C>G	XP_011531331.1:p.Pro591Ala
XM_011533030.2:c.1768C>G	XP_011531332.1:p.Pro590Ala
XR_001738891.1:n.2275C>G
XR_939707.2:n.2275C>G
NM_022437.3:c.1759C>G MANE Select	NP_071882.1:p.Pro587Ala
NM_001357321.2:c.1756C>G	NP_001344250.1:p.Pro586Ala